Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
American Journal of Human Genetics|October 4, 2016
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Loren D M Pena, Katherine Kim, et al.
American Journal of Human Genetics|May 17, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumLaura M Amendola, Gail P Jarvik, Michael C Leo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratoriesJulianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.
The Journal of Clinical Investigation|May 5, 2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F Heeringa, Gil Chernin, Moumita Chaki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 familiesCamille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
Nature Genetics|September 14, 2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyEdgar A Otto, Toby W Hurd, Rannar Airik, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
American Journal of Human Genetics|May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Pageof 3